Macrosatellites are the largest of the tandem DNA repeats. Each macrosatellite repeat typically is several

kilobase A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both ...

s in length, and the entire repeat array often spans hundreds of kilobases. Reduced number of repeats on chromosome 4 (D4Z4 repeats) causes euchromatization of local DNA and is the predominant cause of

facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, ...

(FSHD). Other macrosatellites are RS447, NBL2 and

DXZ4 DXZ4 is a variable number tandemly repeated DNA sequence. In humans it is composed of 3kb monomers containing a highly conserved CTCF binding site. CTCF is a transcription factor protein and the main insulator responsible for partitioning of ch ...

, although RS447 is also commonly referred to as a "megasatellite."

References

Genetics Repetitive DNA sequences {{Genetics-stub

See also

References